Intermediate osteopetrosis
ORPHA:210110· ICD-10 Q78.2
Definition
A rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood